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Stargardt disease 1(STGD1)

MedGen UID:
383691
Concept ID:
C1855465
Disease or Syndrome
Synonyms: ABCA4-Related Stargardt Disease 1; CNGB3-Related Stargardt Disease 1; Juvenile onset macular degeneration; MACULAR DYSTROPHY WITH FLECKS, TYPE 1; Stargardt macular dystrophy; STGD; STGD1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): ABCA4 (1p22.1)
 
Monarch Initiative: MONDO:0009549
OMIM®: 248200
Orphanet: ORPHA364055

Definition

Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. In most people with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. In addition to central vision loss, people with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time. [from MedlinePlus Genetics]

Clinical features

From HPO
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Benign concentric annular macular dystrophy
MedGen UID:
321812
Concept ID:
C1828210
Finding
Retinitis pigmentosa-91 (R91) is characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy. Patients may also experience early macular involvement, with photophobia and reduced visual acuity, and some show a bull's eye pattern of macular atrophy (Olivier et al., 2021).
Retinitis pigmentosa inversa
MedGen UID:
867201
Concept ID:
C4021559
Disease or Syndrome
Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Müller PL, Gliem M, McGuinnes M, Birtel J, Holz FG, Charbel Issa P
Am J Ophthalmol 2021 Feb;222:340-350. Epub 2020 Sep 4 doi: 10.1016/j.ajo.2020.08.042. PMID: 32891696
Sung YC, Yang CH, Yang CM, Lin CW, Huang DS, Huang YS, Hu FR, Chen PL, Chen TC
Genes (Basel) 2020 Nov 27;11(12) doi: 10.3390/genes11121421. PMID: 33261146Free PMC Article
Liu X, Meng X, Yang L, Long Y, Fujinami-Yokokawa Y, Ren J, Kurihara T, Tsubota K, Tsunoda K, Fujinami K, Li S; East Asia Inherited Retinal Disease Society Study Group.
Am J Med Genet C Semin Med Genet 2020 Sep;184(3):694-707. Epub 2020 Aug 26 doi: 10.1002/ajmg.c.31838. PMID: 32845068
Battaglia Parodi M, Sacconi R, Romano F, Bandello F
Graefes Arch Clin Exp Ophthalmol 2019 Jan;257(1):41-48. Epub 2018 Oct 30 doi: 10.1007/s00417-018-4167-6. PMID: 30374616
Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group.; ProgStar Study Group.
Br J Ophthalmol 2019 Mar;103(3):390-397. Epub 2018 Jun 20 doi: 10.1136/bjophthalmol-2018-312064. PMID: 29925512Free PMC Article

Diagnosis

Müller PL, Gliem M, McGuinnes M, Birtel J, Holz FG, Charbel Issa P
Am J Ophthalmol 2021 Feb;222:340-350. Epub 2020 Sep 4 doi: 10.1016/j.ajo.2020.08.042. PMID: 32891696
Sung YC, Yang CH, Yang CM, Lin CW, Huang DS, Huang YS, Hu FR, Chen PL, Chen TC
Genes (Basel) 2020 Nov 27;11(12) doi: 10.3390/genes11121421. PMID: 33261146Free PMC Article
Bax NM, Lambertus S, Cremers FPM, Klevering BJ, Hoyng CB
Graefes Arch Clin Exp Ophthalmol 2019 Jun;257(6):1147-1157. Epub 2019 Mar 22 doi: 10.1007/s00417-019-04280-8. PMID: 30903310
Battaglia Parodi M, Sacconi R, Romano F, Bandello F
Graefes Arch Clin Exp Ophthalmol 2019 Jan;257(1):41-48. Epub 2018 Oct 30 doi: 10.1007/s00417-018-4167-6. PMID: 30374616
Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group.; ProgStar Study Group.
Br J Ophthalmol 2019 Mar;103(3):390-397. Epub 2018 Jun 20 doi: 10.1136/bjophthalmol-2018-312064. PMID: 29925512Free PMC Article

Therapy

Liu Q, Sabirzhanova I, Bergbower EAS, Yanda M, Guggino WG, Cebotaru L
Cell Physiol Biochem 2019;53(2):400-412. doi: 10.33594/000000146. PMID: 31403270Free PMC Article
Bagdonaite-Bejarano L, Hansen RM, Fulton AB
Semin Ophthalmol 2019;34(4):334-339. Epub 2019 May 30 doi: 10.1080/08820538.2019.1622025. PMID: 31146612
Velaga SB, Nittala MG, Jenkins D, Melendez J, Ho A, Strauss RW, Scholl HP, Sadda SR
Graefes Arch Clin Exp Ophthalmol 2019 Mar;257(3):549-556. Epub 2019 Jan 6 doi: 10.1007/s00417-018-04229-3. PMID: 30613916
Oner A, Gonen ZB, Sevim DG, Smim Kahraman N, Unlu M
Cell Reprogram 2018 Dec;20(6):329-336. doi: 10.1089/cell.2018.0045. PMID: 31251672
Moody KJ, Tinklepaugh J, Obert E, Grohn K, DeRosa JR, Lumen E, Moyer BS, Campbell S, Wolfe AJ, Sleeper MB, Bianchi AH, Fisher C, Applegate J, Leary E, LeClair N, Wortel D, Doyle RP, Rohrer B, Blanden AR
Rejuvenation Res 2018 Dec;21(6):560-571. doi: 10.1089/rej.2018.2146. PMID: 30516450

Prognosis

Müller PL, Gliem M, McGuinnes M, Birtel J, Holz FG, Charbel Issa P
Am J Ophthalmol 2021 Feb;222:340-350. Epub 2020 Sep 4 doi: 10.1016/j.ajo.2020.08.042. PMID: 32891696
Velaga SB, Nittala MG, Jenkins D, Melendez J, Ho A, Strauss RW, Scholl HP, Sadda SR
Graefes Arch Clin Exp Ophthalmol 2019 Mar;257(3):549-556. Epub 2019 Jan 6 doi: 10.1007/s00417-018-04229-3. PMID: 30613916
Battaglia Parodi M, Sacconi R, Romano F, Bandello F
Graefes Arch Clin Exp Ophthalmol 2019 Jan;257(1):41-48. Epub 2018 Oct 30 doi: 10.1007/s00417-018-4167-6. PMID: 30374616
Sung Y, Choi SW, Shim SH, Song WK
Ophthalmologica 2019;241(1):38-48. Epub 2018 Jul 4 doi: 10.1159/000490073. PMID: 29975949
Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group.; ProgStar Study Group.
Br J Ophthalmol 2019 Mar;103(3):390-397. Epub 2018 Jun 20 doi: 10.1136/bjophthalmol-2018-312064. PMID: 29925512Free PMC Article

Clinical prediction guides

Müller PL, Gliem M, McGuinnes M, Birtel J, Holz FG, Charbel Issa P
Am J Ophthalmol 2021 Feb;222:340-350. Epub 2020 Sep 4 doi: 10.1016/j.ajo.2020.08.042. PMID: 32891696
Bax NM, Lambertus S, Cremers FPM, Klevering BJ, Hoyng CB
Graefes Arch Clin Exp Ophthalmol 2019 Jun;257(6):1147-1157. Epub 2019 Mar 22 doi: 10.1007/s00417-019-04280-8. PMID: 30903310
Battaglia Parodi M, Sacconi R, Romano F, Bandello F
Graefes Arch Clin Exp Ophthalmol 2019 Jan;257(1):41-48. Epub 2018 Oct 30 doi: 10.1007/s00417-018-4167-6. PMID: 30374616
Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group.; ProgStar Study Group.
Br J Ophthalmol 2019 Mar;103(3):390-397. Epub 2018 Jun 20 doi: 10.1136/bjophthalmol-2018-312064. PMID: 29925512Free PMC Article
Mehat MS, Sundaram V, Ripamonti C, Robson AG, Smith AJ, Borooah S, Robinson M, Rosenthal AN, Innes W, Weleber RG, Lee RWJ, Crossland M, Rubin GS, Dhillon B, Steel DHW, Anglade E, Lanza RP, Ali RR, Michaelides M, Bainbridge JWB
Ophthalmology 2018 Nov;125(11):1765-1775. Epub 2018 Jun 5 doi: 10.1016/j.ophtha.2018.04.037. PMID: 29884405Free PMC Article

Recent systematic reviews

Waugh N, Loveman E, Colquitt J, Royle P, Yeong JL, Hoad G, Lois N
Health Technol Assess 2018 May;22(27):1-168. doi: 10.3310/hta22270. PMID: 29846169Free PMC Article

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